title: Increased cerebellar volume in the early stage of fucosidosis: a case control study.
abstract: BACKGROUND
  Yet unreported in this lysosomal storage disease, we aimed to quantify our observation that patients with fucosidosis may show abnormally increased cerebellar volumes during early childhood.
  
  
  METHODS
  Five normocephalic fucosidosis patients (age range 2-25 months, three males) were included in this retrospective case control study. The control cohort consisted of 25 children (age range 0-36 months, 15 males). Image postprocessing was performed independently by two radiologists. Using validated software, manual tracing of contours on contiguous sagittal magnetic resonance images was allowed for cerebellar volumetry. We tested the null hypothesis that mean cerebellar volumes of four fucosidosis patients (age 16, 20, 21, and 25 months) and of an age-matched control cohort (n = 8, age range 13-26 months) were equal based on a two-tailed unpaired t-test.
  
  
  RESULTS
  Interobserver agreement was excellent (R = 1, p < 0.01). A rough trajectory of normal cerebellar development appeared to flatten around the age of 1 year. With mean volumes of 121.36 and 102.30 ml, respectively, cerebellar volumes of fucosidosis patients with a mean age of 21 months were significantly increased compared to age-matched controls (p < 0.05). In a single patient, longer-term follow-up with MRI at the age of 47 months was available and showed cerebellar atrophy.
  
  
  CONCLUSIONS
  Increased cerebellar volume was shown to be an additional feature in the early stage of fucosidosis. The combination with a confirmed tendency toward atrophy of the cerebellum during later course of the disease is probably unique in the context of metabolic disorders of the brain.
authors.affiliation: Department of Diagnostic Imaging, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland. t.kau@gmx.at
authors.forename: Thomas
authors.initials: T
authors.lastname: Kau
authors.forename: Christoph
authors.initials: C
authors.lastname: Karlo
authors.forename: Tayfun
authors.initials: T
authors.lastname: Güngör
authors.forename: Viola
authors.initials: V
authors.lastname: Prietsch
authors.forename: Christian J
authors.initials: CJ
authors.lastname: Kellenberger
authors.forename: Ianina
authors.initials: I
authors.lastname: Scheer
authors.forename: Eugen
authors.initials: E
authors.lastname: Boltshauser
mesh_terms: D016022:Case-Control Studies; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D005645:Fucosidosis / Q000473:pathology*; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods*; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009929:Organ Size; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity